Vanderbilt University Medical Center Medical Genetics and Genomics

Topics

• Growth Hormone and Insulin-like Growth Factors 54
• Pulmonary Hypertension Research and Treatments 49
• Genomics and Rare Diseases 47
• Metabolism and Genetic Disorders 27
• Cystic Fibrosis Research Advances 17
• Hemoglobinopathies and Related Disorders 13
• Connective tissue disorders research 11
• Genomic variations and chromosomal abnormalities 10
• Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis 10
• Genetics and Neurodevelopmental Disorders 9
• Hemophilia Treatment and Research 9
• Lysosomal Storage Disorders Research 8

Most cited

1. Cell-programmed nutrient partitioning in the tumour microenvironment.

   Nature · 2021 · 890 citations · Rachel Brown

2. Health Supervision for Children and Adolescents With Down Syndrome.

   Pediatrics · 2022 · 229 citations · Rizwan Hamid

3. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

   Nature reviews. Endocrinology · 2022 · 130 citations · John Phillips

4. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · John Phillips

5. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

   The Lancet. Child & adolescent health · 2024 · 64 citations · John Phillips

6. Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models.

   Journal of healthcare informatics research · 2024 · 39 citations · Rizwan Hamid

7. A single-cell atlas of mouse lung development.